Genetic
counselling
The main responsibilities of the department are to
provide genetic counselling and work-up of monogenic disorders, congenital
malformations and suspected syndromes. Cancer genetic counselling is offered in
collaboration with in-hospital and regional departments.
Cytogenetics
The Chromosome Laboratory
performs pre- and postnatal chromosome and molecular cytogenetic analyses (MLPA,
array CGH, FISH). Preimplantation chromosome analysis is offered in collaboration
with the Fertility Department. The Section of Haematology-Oncology performs
diagnostic and follow-up cytogenetic analyses (G-banding and FISH) on bone
marrow and blood from patients with hematological malignancies. Other samples
are analysed for acquired mutations and/or for detection of minimal residual
disease by quantitative RT-PCR.
Inborn Errors of
Metabolism
The Metabolic Laboratory carries out inborn errors of
metabolism, including urine screening, enzyme assays, and prenatal diagnostic
tests. Newborns with a positive result through extended biochemical screening
are evaluated further via biochemical and molecular genetic analysis. Inpatient
care facilities, the outpatient Department for Rare Handicaps and the Metabolic
Laboratory together make up the Center for Inborn Errors of
Metabolism.
Molecular Genetics
The Molecular Genetic
Laboratory performs pre-and postnatal DNA analyses of more than 100 rare
mendelian disorders. Special interests include pediatric, metabolic,
mitochondrial, and neuromuscular disorders. Preimplantation genetic diagnosis is
offered in collaboration with the Fertility
Department.
Department for Rare Handicaps
The
Department of Clinical Genetics is a regional and national centre for treatment
of inborn errors of metabolism and other congenital disorders. The Department
for Rare Handicaps is responsible for the highly specialized and coordinated
outpatient follow-up and treatment of inherited disorders and other rare
handicaps, including a large number of different inborn errors of
metabolism.